ArticleProceedings of the National Academy of Sciences of the United States of America2009
Allelic recombination between distinct genomic locations generates copy number diversity in human beta-defensins.
Article in Proceedings of the National Academy of Sciences of the United States of America, 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 40 papers.
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Who cites it
40 citing papers in PubMed, 61 citations in OpenAlex.
- Characterization of avian β-defensin genes in Galliformes reveals widespread evolutionary diversification and distinct evolutionary relationships with infection risk.BMC genomics · 2025Article
- AMPed up immunity: 418 whole genomes reveal intraspecific diversity of koala antimicrobial peptides.Immunogenetics · 2025Article
- HiCanu: accurate assembly of segmental duplications, satellites, and allelic variants from high-fidelity long reads.Genome research · 2020Article
- The Dichotomous Responses Driven by β-Defensins.Frontiers in immunology · 2020Review
- Article
- Human beta defensin (HBD) gene copy number affects HBD2 protein levels: impact on cervical bactericidal immunity in pregnancy.European journal of human genetics : EJHG · 2018Article
- Interchromosomal core duplicons drive both evolutionary instability and disease susceptibility of the Chromosome 8p23.1 region.Genome research · 2016Article
- Determining multiallelic complex copy number and sequence variation from high coverage exome sequencing data.BMC genomics · 2015Article
- Adaptive potential of genomic structural variation in human and mammalian evolution.Briefings in functional genomics · 2015Review
- Large multiallelic copy number variations in humans.Nature genetics · 2015Article
- An evolutionary history of defensins: a role for copy number variation in maximizing host innate and adaptive immune responses.Frontiers in immunology · 2015Review
- Evidence of convergent evolution in humans and macaques supports an adaptive role for copy number variation of the β-defensin-2 gene.Genome biology and evolution · 2014Article
- Human gene copy number variation and infectious disease.Human genetics · 2014Review
- Narrowing down the distal border of the copy number variable beta-defensin gene cluster on human 8p23.BMC research notes · 2014Article
- 8p23 beta-defensin copy number determination by single-locus pseudogene-based paralog ratio tests risk bias due to low-frequency sequence variations.BMC genomics · 2014Article
- Article
- The challenges and importance of structural variation detection in livestock.Frontiers in genetics · 2014Review
- Article
- Accurate measurement of gene copy number for human alpha-defensin DEFA1A3.BMC genomics · 2013Article
- Partial deletion of chromosome 8 β-defensin cluster confers sperm dysfunction and infertility in male mice.PLoS genetics · 2013Article
Corrections and comments
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Authors and funding
3 authors at 3 institutions in 1 country.
Funding
Abstract
Beta-defensins are small secreted antimicrobial and signaling peptides involved in the innate immune response of vertebrates. In humans, a cluster of at least 7 of these genes shows extensive copy number variation, with a diploid copy number commonly ranging between 2 and 7. Using a genetic mapping approach, we show that this cluster is at not 1 but 2 distinct genomic loci approximately 5 Mb apart on chromosome band 8p23.1, contradicting the most recent genome assembly. We also demonstrate that the predominant mechanism of change in beta-defensin copy number is simple allelic recombination occurring in the interval between the 2 distinct genomic loci for these genes. In 416 meiotic transmissions, we observe 3 events creating a haplotype copy number not found in the parent, equivalent to a germ-line rate of copy number change of approximately 0.7% per gamete. This places it among the fastest-changing copy number variants currently known.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.